Congenital deafness is hearing loss present at birth. More than 50% of congenital deafness is thought to be genetic. Earlier accurate diagnosis for these children can better guide medical care, particularly for forms of deafness that can also cause other health problems later in childhood.
Newborns (born during 2016 and 2017) from across Victoria diagnosed with permanent hearing impairment in both ears of moderate or greater severity were offered genomic sequencing in addition to their usual care.
In addition to testing for genes associated with deafness, we are offering parents the opportunity for their child’s genome to be tested for other conditions that occur in childhood.
This is the first study internationally to combine genomic information with clinical, educational and health economic outcomes – from diagnosis in infancy through to primary school (through the Victorian Childhood Hearing Impairment Longitudinal databank - VicCHILD).
Click here for more information on Melbourne Genomics' congenital deafness project.
"Exome sequencing in infants with congenital hearing impairment: a population-based cohort study", Lilian Downie, Jane Halliday, Rachel Burt, Sebastian Lunke, Elly Lynch, Melissa Martyn, Zeffie Poulakis, Clara Gaff, Valerie Sung, Melissa Wake, Matthew F. Hunter, Kerryn Saunders, Elizabeth Rose, Sharon Lewis, Anna Jarmolowicz, Dean Phelan, Heidi L. Rehm, Melbourne Genomics Health Alliance & David J. Amor, European Journal of Human Genetics (2019) doi:10.1038/s41431-019-0553-8
"Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project", Lilian Downie, Jane Halliday, Sharon Lewis, Sebastian Lunke, Elly Lynch, Melissa Martyn, Clara Gaff, Anna Jarmolowicz and David J Amor, Genetics in Medicine (2020) doi.org/10.1038/s41436-019-0745-1